ClinVar Miner

List of variants in gene GIPC3 reported as pathogenic for auditory system disorder

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_133261.3(GIPC3):c.136G>A (p.Gly46Arg) rs946085339 0.00002
NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys) rs387907002
NM_133261.3(GIPC3):c.685dup (p.Ala229fs) rs748150647
NM_133261.3(GIPC3):c.724G>T (p.Glu242Ter) rs1568278651
NM_133261.3(GIPC3):c.767G>A (p.Gly256Asp) rs387907001
NM_133261.3(GIPC3):c.785T>G (p.Leu262Arg) rs387906999
NM_133261.3(GIPC3):c.903G>A (p.Trp301Ter) rs387907000

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.